The Doors Opened From The First “Big Science” Project: The Human Genome Project

Started in 1990, the Human Genome Project (HGP) was the first publicly funded major biological and medical “foray” that allowed the sequencing of 3.2 billion base pairs to create a physical map of the human genome. Initially, HGP was built on two main principles. Firstly, created as a collaborative effort, this was an all-inclusive determination to sequence the human genome. Secondly, HGP was founded on the basis that once the human genome was sequenced it would be made available to the general public within 24 hours Just like any other project that requires large funds, this effort to understand the human genome came with its own group of skeptics, which included scientists and policymakers alike. Since the advocacy for HGP began, the discussion on whether the cost of the project would outweigh the potential benefits ensued. 

Sequencing the whole human genome and mapping out single-nucleotide polymorphisms, in theory, was supposed to point out the defective genes responsible for the mysterious diseases with initially unknown causes. This reasoning stems from the fact that genetic causes are responsible for most diseases, and sequence analysis between reference and defective genome could potentially reveal the differences that can account for the disease. However, variation exists between humans. Although 99.9% of our genes are identical among each other, there is still 0.1% gene variation. Since the human genome is made up of three billion base pairs, 0.1% of our genome creates a variation of three million base pairs This is what holds the secret to disease and certain traits. Although the human genome project didn’t reveal the genetic causes for all genetic diseases immediately, it created a pathway to guide scientists into these regions where the solutions to our medical problems are coded. 

The Human Genome Project enlightened the world of genetics, medicine, and science. It has resulted in the advancement of biotechnological and medical tools. Due to HGP, “first-generation sequencing” technology which involved gel electrophoresis and sequencing ladders was replaced by “second-generation sequencing” technologies which accelerated research for scientists by producing up-to hundreds of millions of short reads in a single run. After having created a reference sequence for each human chromosome, techniques used in HGP allowed the sequencing of plants and animals, revolutionizing many other fields of science. Additionally, given the ability to sequence whole genomes and identify the defected sequences. 

Although the actual economic value of the HGP is incalculable, due to the endless number of scientific advancements made as a result of HGP, as funding dictates science, it is important to discuss some of the economic parameters that surround HGP. According to the Battelle Study, with a $3.8 billion investment, HGP “drove $796 billion in economic impact” and resulted in the production of 310,000 jobs. Since science is based on discovering the unknown, investment in science is always unpredictable, yet also necessary. 

During the early days of the human genome project, 80% of the biologists and the National Institute of Health (NIH) were against its advocacy efforts. Surprisingly, it was the US Department of Energy (DOE) that supported the project. DOE was interested in understanding the effects of radiation on the genome, primarily, to determine the consequences of unpredictable energies such as the atomic bomb. It’s been 17 years since HGP has concluded, still, the NIH is giving out funding to researchers using tools developed during the HGP to find the answers to many of our other undiscovered questions. Scientific discovery and research will always require funding, regardless of the economic outcome, the impact will be priceless as it will affect generations to come.

References:

Collins, Francis S., Michael Morgan, and Aristides Patrinos. "The Human Genome Project: lessons from large-scale biology." Science 300.5617 (2003): 286-290.

Chial, Heidi. "DNA sequencing technologies key to the Human Genome Project." Nature Education 1.1 (2008).

Genome.gov. 2020. Whole Genome Association Studies. [online] Available at: <https://www.genome.gov/17516714/2006-release-about-whole-genome-association-studies>.

Hood, Leroy, and Lee Rowen. "The human genome project: big science transforms biology and medicine." Genome medicine 5.9 (2013): 79.

Tripp, Simon, and Martin Grueber. "Economic impact of the human genome project." Battelle Memorial Institute 58 (2011): 1-58.